A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599099



Internal ID6639365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191263515..191280402hg38UCSC Ensembl
chr3:190981304..190998191hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3816888
hg1916888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11269543
SamplesNA19380
Known GenesUTS2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599099
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer